autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
MONDO:0018601Mondo
Findings
No curated finding names autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- Narrow chestHPOHP:0000774
- Very frequent (80% to 99% of cases)
- RhizomeliaHPOHP:0008905
- Very frequent (80% to 99% of cases)
- Upper airway obstructionHPOHP:0002781
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Dumbbell-shaped long boneHPOHP:0000947
- Frequent (30% to 79% of cases)
- Femoral bowingHPOHP:0002980
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- GlossoptosisHPOHP:0000162
- Frequent (30% to 79% of cases)
- High myopiaHPOHP:0011003
- Frequent (30% to 79% of cases)
Show the remaining 7
- Hypoplastic scapulaeHPOHP:0000882
- Frequent (30% to 79% of cases)
- Metaphyseal wideningHPOHP:0003016
- Frequent (30% to 79% of cases)
- Midface retrusionHPOHP:0011800
- Frequent (30% to 79% of cases)
- Premature birthHPOHP:0001622
- Frequent (30% to 79% of cases)
- ProptosisHPOHP:0000520
- Frequent (30% to 79% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COL11A1HGNC:2186
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of